We each have two number 15 chromosomes, one inherited from our mother (M.) and one inherited from our father (P, paternal). The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. The diagrams below illustrate the four known genetic mechanisms that cause Angelman syndrome. Continue Reading →

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Has someone in your family been recently diagnosed with Angelman syndrome? Fill out this simple form if you would like to receive more information on AS.

The Angelman Syndrome Foundation is the largest non-governmental funder of Angelman syndrome-specific research. It is our hope that these funded researchers, and their collaborators and peers, will bring forth new discoveries that ultimately lead to treatments and a cure.

The ASF has partnered with leading medical and research institutions, to found the Angelman Syndrome Clinics, a “one-stop-shop” medical and psychosocial resource from birth through adulthood. Each clinic has its own unique capabilities that leverage the expertise and specialized care available from each partnering organization.

Dr. Art Beaudet to receive McKusick Leadership Award

Congratulations to Dr. Arthur Beaudet on being named the 2017 recipient of the Victor A. McKusick Leadership Award from the American Society of Human Genetics.

Dr. Beaudet has been a pioneering force in Angelman syndrome research; it’s truly because of him that AS research has progressed to where it is today! Whether it be identifying the Ube3a gene as the cause of AS or working on several treatments for AS—including his recent ASF-funded study in 2014 on ASOs.